Suarez Cristina, Marmolejo David, Valdivia Augusto, Morales-Barrera Rafael, Gonzalez Macarena, Mateo Joaquin, Semidey Maria Eugenia, Lorente David, Trilla Enrique, Carles Joan
Medical Oncology, Vall d´Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d´Hebron, Vall d´Hebron Barcelona Hospital Campus, Barcelona, Spain.
Pathology Department, Vall d'Hebron University Hospital, Vall d´Hebron Barcelona Hospital Campus, Barcelona, Spain.
Front Oncol. 2022 Oct 4;12:970199. doi: 10.3389/fonc.2022.970199. eCollection 2022.
Collecting duct renal cell carcinoma (cdRCC), which until recently was thought to arise from the collecting ducts of Bellini in the renal medulla, is a rare and aggressive type of non-clear renal cell carcinoma (ncRCC), accounting for 1% of all renal tumors and with nearly 50% of patients being diagnosed with Stage IV disease. The median overall survival in this setting is less than 12 months. Several regimens of chemotherapies had been used based on morphologic and cytogenetic similarities with urothelial cell carcinoma described previously, although the prognosis still remains poor. The use of targeted therapies also did not result in favorable outcomes. Recent works using NGS have highlighted genomic alterations in , and . Moreover, transcriptomic studies have confirmed the differences between urothelial carcinoma and cdRCC, the possible true origin of this disease in the distal convoluted tubule (DCT), differentiating from other RCC (e.g., clear cell and papillary) that derive from the proximal convoluted tubule (PCT), and enrichment in immune cells that may harbor insights in novel treatment strategies with immunotherapy and target agents. In this review, we update the current aspects of the clinical, molecular characterization, and new targeted therapeutic options for Collecting duct carcinoma and highlight the future perspectives of treatment in this setting.
集合管肾细胞癌（cdRCC），直到最近还被认为起源于肾髓质的贝氏集合管，是一种罕见且侵袭性强的非透明肾细胞癌（ncRCC），占所有肾肿瘤的1%，近50%的患者被诊断为IV期疾病。在这种情况下，中位总生存期不到12个月。基于与先前描述的尿路上皮细胞癌的形态学和细胞遗传学相似性，已经使用了几种化疗方案，尽管预后仍然很差。使用靶向治疗也没有产生良好的效果。最近使用NGS的研究突出了[具体基因1]和[具体基因2]中的基因组改变。此外，转录组学研究证实了尿路上皮癌和cdRCC之间的差异，这种疾病可能真正起源于远曲小管（DCT），与源自近曲小管（PCT）的其他肾细胞癌（如透明细胞癌和乳头状癌）不同，并且免疫细胞富集，这可能为免疫治疗和靶向药物的新治疗策略提供见解。在这篇综述中，我们更新了集合管癌的临床、分子特征和新的靶向治疗选择的当前方面，并强调了这种情况下治疗的未来前景。
